Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: KCNQ2: 602G>A; Arg201His
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review.
Frontiers In Neurology
Amore, Greta G; Butera, Ambra A; Spoto, Giulia G; Valentini, Giulia G; Saia, Maria Concetta MC; Salpietro, Vincenzo V; Calì, Francesco F; Di Rosa, Gabriella G; Nicotera, Antonio Gennaro AG
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Jci Insight
Vanoye, Carlos G CG; Desai, Reshma R RR; Ji, Zhigang Z; Adusumilli, Sneha S; Jairam, Nirvani N; Ghabra, Nora N; Joshi, Nishtha N; Fitch, Eryn E; Helbig, Katherine L KL; McKnight, Dianalee D; Lindy, Amanda S AS; Zou, Fanggeng F; Helbig, Ingo I; Cooper, Edward C EC; George, Alfred L AL
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09
Variant appearance in text: KCNQ2: 602G>A; Arg201His
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Plos One
Ortega-Moreno, Laura L; Giráldez, Beatriz G BG; Soto-Insuga, Victor V; Losada-Del Pozo, Rebeca R; Rodrigo-Moreno, María M; Alarcón-Morcillo, Cristina C; Sánchez-Martín, Gema G; Díaz-Gómez, Esther E; Guerrero-López, Rosa R; Serratosa, José M JM; ,
Publication Date: 2017
Variant appearance in text: KCNQ2: 602G>A; Arg201His
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Nature Communications
Reijnders, M R F MRF; Kousi, M M; van Woerden, G M GM; Klein, M M; Bralten, J J; Mancini, G M S GMS; van Essen, T T; Proietti-Onori, M M; Smeets, E E J EEJ; van Gastel, M M; Stegmann, A P A APA; Stevens, S J C SJC; Lelieveld, S H SH; Gilissen, C C; Pfundt, R R; Tan, P L PL; Kleefstra, T T; Franke, B B; Elgersma, Y Y; Katsanis, N N; Brunner, H G HG
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10
Variant appearance in text: KCNQ2: 602G>A; Arg201His
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Epilepsia
Mulkey, Sarah B SB; Ben-Zeev, Bruria B; Nicolai, Joost J; Carroll, John L JL; Grønborg, Sabine S; Jiang, Yong-Hui YH; Joshi, Nishtha N; Kelly, Megan M; Koolen, David A DA; Mikati, Mohamad A MA; Park, Kristen K; Pearl, Phillip L PL; Scheffer, Ingrid E IE; Spillmann, Rebecca C RC; Taglialatela, Maurizio M; Vieker, Silvia S; Weckhuysen, Sarah S; Cooper, Edward C EC; Cilio, Maria Roberta MR
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
Epilepsia
Millichap, John J JJ; Miceli, Francesco F; De Maria, Michela M; Keator, Cynthia C; Joshi, Nishtha N; Tran, Baouyen B; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; Shashi, Vandana V; Mikati, Mohamad A MA; Cooper, Edward C EC; Taglialatela, Maurizio M
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Frontiers In Cellular Neuroscience
Miceli, Francesco F; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; De Maria, Michela M; Manocchio, Laura L; Medoro, Alessandro A; Taglialatela, Maurizio M
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Miceli, Francesco F; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; De Maria, Michela M; Migliore, Michele M; Migliore, Rosanna R; Taglialatela, Maurizio M